Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. 27504264

2016

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. 27413160

2016

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. 23596073

2013

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. 23895530

2013

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 21698661

2012

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals. 21118538

2010

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 19763161

2009

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. 18524793

2008

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). 17679678

2007

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR A stop codon mutation in SCN9A causes lack of pain sensation. 17597096

2007

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 16392115

2006

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR An SCN9A channelopathy causes congenital inability to experience pain. 17167479

2006

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 16702558

2006

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499

2006

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. 15958509

2005

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Erythromelalgia: a hereditary pain syndrome enters the molecular era. 15929046

2005

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 14985375

2004

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Small-fiber neuropathy. 12210380

2002

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. 9037087

1997

Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Idiopathic distal small fiber neuropathy. 8610490

1995